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Rare variants of DNA ligase 1 show distinct mechanisms of deficiency.
Veenstra JH, Chabez A, Haanen TJ 3rd, Keranen A, Cunningham-Rundles C, O'Brien PJ. Veenstra JH, et al. Among authors: cunningham rundles c. J Biol Chem. 2024 Nov 5;300(12):107957. doi: 10.1016/j.jbc.2024.107957. Online ahead of print. J Biol Chem. 2024. PMID: 39510190 Free PMC article.
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
Ramos MA, Bonini KE, Scarimbolo L, Kelly NR, Insel B, Suckiel SA, Brown K, Di Biase M, Gallagher KM, Lopez J, Aguiñiga KL, Marathe PN, Maria E, Odgis JA, Rodriguez JE, Rodriguez MA, Ruiz N, Sebastin M, Yelton NM, Cunningham-Rundles C, Gertner M, Laguerre I, McDonald TV, McGoldrick PE, Robinson M, Rubinstein A, Shulman LH, Williams T, Wolf SM, Yozawitz EG, Zinberg RE, Abul-Husn NS, Bauman LJ, Diaz GA, Ferket BS, Greally JM, Jobanputra V, Gelb BD, Kenny EE, Wasserstein MP, Horowitz CR. Ramos MA, et al. Among authors: cunningham rundles c. Am J Hum Genet. 2024 Dec 5;111(12):2607-2617. doi: 10.1016/j.ajhg.2024.10.015. Epub 2024 Nov 19. Am J Hum Genet. 2024. PMID: 39566494
Primary Versus Secondary Immune Thrombocytopenia (ITP): A Meeting Report from the 2023 McMaster ITP Summit.
Modi D, Chowdhury SR, Mahamad S, Modi H, Cines D, Neunert C, Al-Samkari H, Cooper N, Moulis G, Cunningham-Rundles C, Liebman H, Bussel JB, Breakey VR, Nazy I, Arnold DM. Modi D, et al. Among authors: cunningham rundles c. Thromb Haemost. 2024 Dec 24. doi: 10.1055/a-2508-1112. Online ahead of print. Thromb Haemost. 2024. PMID: 39719150 Free article.
Maintenance of X chromosome inactivation after T cell activation requires NF-κB signaling.
Forsyth KS, Toothacre NE, Jiwrajka N, Driscoll AM, Shallberg LA, Cunningham-Rundles C, Barmettler S, Farmer J, Verbsky J, Routes J, Beiting DP, Romberg N, May MJ, Anguera MC. Forsyth KS, et al. Among authors: cunningham rundles c. Sci Immunol. 2024 Oct 4;9(100):eado0398. doi: 10.1126/sciimmunol.ado0398. Epub 2024 Oct 4. Sci Immunol. 2024. PMID: 39365876
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. Utsumi T, et al. Among authors: cunningham rundles c. J Clin Immunol. 2024 Aug 15;44(8):178. doi: 10.1007/s10875-024-01785-8. J Clin Immunol. 2024. PMID: 39143376 Free PMC article. No abstract available.
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. Utsumi T, et al. Among authors: cunningham rundles c. J Clin Immunol. 2024 Jul 29;44(7):167. doi: 10.1007/s10875-024-01758-x. J Clin Immunol. 2024. PMID: 39073655 Free PMC article.
412 results